Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs111426349
rs111426349
4 0.882 0.120 9 99149252 missense variant C/A;T snv 4.0E-06 0.800 1.000 13 2005 2017
dbSNP: rs121918710
rs121918710
1 1.000 0.120 9 99142683 missense variant T/G snv 0.800 1.000 12 2005 2017
dbSNP: rs121918711
rs121918711
1 1.000 0.120 9 99146553 missense variant A/G snv 0.800 1.000 12 2005 2017
dbSNP: rs121918712
rs121918712
1 1.000 0.120 9 99137883 missense variant C/T snv 0.800 1.000 12 2005 2017
dbSNP: rs113605875
rs113605875
3 0.882 0.120 9 99149253 missense variant G/A;C;T snv 0.800 1.000 7 2011 2017
dbSNP: rs111854391
rs111854391
18 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.800 1.000 6 2005 2012
dbSNP: rs121918713
rs121918713
1 1.000 0.120 9 99132686 missense variant G/T snv 1.2E-05 0.700 0
dbSNP: rs1554701914
rs1554701914
1 1.000 0.120 9 99144819 missense variant T/C snv 0.700 0
dbSNP: rs727503470
rs727503470
1 1.000 0.120 9 99137924 missense variant G/A;T snv 0.700 0